Understanding Hemophilia

Explanation Haemophilia is a rare bleeding disorder in which blood does not condense properly. Haemophilia is usually hereditary and has little or no coagulation factor (protein necessary for normal blood coagulation). These proteins cooperate with platelets to aid thrombosis. When a blood vessel is injured, the coagulation factor helps platelets stick together to block the incision and rupture of the vessel. Haemophilia usually occurs in men, one in 5,000 men per year and one in this disease.

The name of hemophilia comes from the Greek word "like blood". There are two types of haemophilia. The most common hemophilia A is also known as classical hemophilia. Hemophilia B or Christmas disease named after the first patient diagnosed with hemophilia B. Hemophilia B lacks AHF (antihemophilic factor). Approximately 85% of hemophiliacs are typical or have haemophilia A. Hemophilia A lacks blood coagulation factor 8. 85% of the others have Christmas and lack coagulation factor 9. Very few haemophilia patients lack separate coagulation factors

Currently, two types of haemophilia, A and B, are known. Both are because there are no specific coagulation factors in the blood. Hemophilia A is a deficiency of functional factor VIII, one in 10,000 males. Hemophilia B is due to lack of Factor IX and one in 25,000 men is born. An estimated 500,000 people suffer from hemophilia. About 20,000 people live in the United States. Hemophilia A and hemophilia B are X-linked recessive genetic diseases caused by mutations in the genes encoded by linked factor VIII and factor IX. Both genes are on the X chromosome. Because men have only one X chromosome, hemophilia usually occurs in men. When the boy inherits a defective gene, it indicates a disease. In rare cases, there is a possibility of suffering from haemophilia by women (in cases where the father is a haemophilia patient and the mother is a carrier), or due to spontaneous mutation

Men with hemophilia genes on the X chromosome become haemophilia. If there is only one hemophilia gene on the X chromosome, that woman is a "haemophilia vector" and you can pass that gene to your child. Sometimes carriers have low levels of coagulation factors and have symptoms of haemophilia including bleeding. Protein in blood coagulation factor blood stops or suppresses bleeding by platelets. If you or your child has bleeding problems, your doctor asks about your personal and family medical history. This will reveal bleeding problems including you and your family, women and girls. However, some people with haemophilia recently have no family history of this disease.

The National Institute of Cardiopulmonary Blood Research (NHLBI) is leading or sponsors a number of studies for the prevention, diagnosis and treatment of heart, lung, blood, and sleep disorders.